Details of Disease | DrugMAP

General Information of Disease (ID: DISOIXFU)

Disease Name	Beta-thalassemia HBB/LCRB
Synonyms	beta-thalassemia; thalassemia, beta; thalassemia, hispanic gamma-delta-beta
Definition	Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.\|OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095).
Disease Hierarchy	DIS5RCQK: Beta thalassemia DISOIXFU: Beta-thalassemia HBB/LCRB

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBB	TTM6HK1	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HBB	OT514IKQ	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.